Abnormalities of gonadal differentiation.

[1]  D. Warburton,et al.  A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function. , 1998, American journal of human genetics.

[2]  D. Page,et al.  Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. , 1997, Human molecular genetics.

[3]  J. Graves Two uses for old SOX , 1997, Nature Genetics.

[4]  A. Sinclair,et al.  Mutations in SRY and SOX9: Testis‐determining genes , 1997, Human mutation.

[5]  H. Ostrer,et al.  Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. , 1996, The Journal of clinical endocrinology and metabolism.

[6]  B. Turner,et al.  Combined Leydig cell and Sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. , 1995, American journal of medical genetics.

[7]  O. Hiort,et al.  True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene. , 1995, The Journal of pediatrics.

[8]  A. Spurdle,et al.  XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome. , 1995, American journal of medical genetics.

[9]  A. Yajima,et al.  Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY. , 1995, Fertility and sterility.

[10]  C. Migeon,et al.  Wilkins the Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , 1994 .

[11]  P. Pearson,et al.  Nonrandom inactivation of the Y-bearing X chromosome in a 46,XX individual: evidence for the etiology of 46,XX true hermaphroditism. , 1994, Cytogenetics and cell genetics.

[12]  I. Herskowitz,et al.  A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[13]  P. Goodfellow,et al.  The role of the sex-determining region Y gene in the etiology of 46,XX maleness. , 1993, The Journal of clinical endocrinology and metabolism.

[14]  A. Braun,et al.  True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. , 1993, American journal of human genetics.

[15]  B. Williams,et al.  Inherited WT1 mutation in Denys-Drash syndrome. , 1992, Cancer research.

[16]  A. Talerman,et al.  Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. , 1992, Fertility and sterility.

[17]  E. Perlman,et al.  Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis: Its Relevance to the Understanding of Sex Differentiation , 1991, Medicine.

[18]  R D Clark,et al.  The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. , 1990, American journal of human genetics.

[19]  L. Hsu Prenatal diagnosis of 45,X/46,XY mosaicism—A review and update , 1989, Prenatal diagnosis.

[20]  R. Frydman,et al.  Pregnancy in a 46, XY patient. , 1988, Fertility and sterility.

[21]  D. Page,et al.  XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation. , 1988, American journal of human genetics.

[22]  C. Jackson,et al.  Gonadoblastoma in infancy: indications for early gonadectomy in 46XY gonadal dysgenesis. , 1988, Journal of pediatric surgery.

[23]  J. Simpson,et al.  Abnormal sexual differentiation and neoplasia. , 1987, Cancer genetics and cytogenetics.

[24]  M. Macgillivray,et al.  Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. , 1987, The Journal of pediatrics.

[25]  E. Eicher,et al.  Genetic control of primary sex determination in mice. , 1986, Annual review of genetics.

[26]  P. Donahoe,et al.  Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. , 1982, Human pathology.

[27]  N. Josso The Intersex child , 1981 .

[28]  S. Wachtel,et al.  Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. , 1980, Science.

[29]  W. Beamer,et al.  A cytogenetic investigation of inherited true hermaphroditism in BALB/cWt mice. , 1980, Cytogenetics and cell genetics.

[30]  R. MacMahon,et al.  Germ cells and ova in dysgenetic gonads of a 46-XY female dizygotic twin. , 1979, American journal of diseases of children.

[31]  W. V. Niekerk,et al.  True hermaphroditism: an analytic review with a report of 3 new cases. , 1976, American journal of obstetrics and gynecology.

[32]  P. R. Betts,et al.  Juvenile nephrono phthisis , 1973 .

[33]  D. Federman Disorders of sexual development. , 1967, The New England journal of medicine.

[34]  M. Ferguson-Smith X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. , 1966, Lancet.

[35]  RoderickP. Singh,et al.  The anatomy and histology of XO human embryos and fetuses , 1966, The Anatomical record.